G78V (p.Gly78Val) variant of ADAMTS13 (Q76LX8)
G78V (p.Gly78Val) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
G78V (p.Gly78Val) variant details
- p.Gly78Val
- ExAC rs782188171
- gnomAD rs782188171
- cosmic curated COSV10817
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.08
- MetaLR 0.31
- MetaSVM -0.78
- CADD 6.49
- PolyPhen-2 0.11
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available